ArticleAmerican journal of human genetics2011
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 93 papers, 1 of them a synthesis that pooled it.
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Who cites it
93 citing papers in PubMed, 1 synthesis or guideline pooled it, 175 citations in OpenAlex.
- Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus.Investigative ophthalmology & visual science · 2013Pooled it
- Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026Review
- Heterogeneity, dynamics and organelle interactions of lipid droplets.Nature reviews. Molecular cell biology · 2026Review
- The Genetic Landscape of Paediatric Cataract in Saudi Arabia: A Two-Decade Cohort with Novel Variants, Genotype-Phenotype Correlations, and Bioinformatic Analysis.Journal of clinical medicine · 2026Article
- TBC1D20 coordinates vesicle transport and actin remodeling to regulate ciliogenesis.The Journal of cell biology · 2025Article
- Biochemical and structural characterization of Rab3GAP reveals insights into Rab18 nucleotide exchange activity.Nature communications · 2025Article
- Article
- 2'3'-cGAMP interactome identifies 2'3'-cGAMP/Rab18/FosB signaling in cell migration control independent of innate immunity.Science advances · 2024Article
- The FAM114A proteins are adaptors for the recycling of Golgi enzymes.Journal of cell science · 2024Article
- Rab18 maintains homeostasis of subcutaneous adipose tissue to prevent obesity-induced metabolic disorders.Science China. Life sciences · 2024Article
- Rab1b facilitates lipid droplet growth by ER-to-lipid droplet targeting of DGAT2.Science advances · 2024Article
- Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders.Scientific reports · 2024Article
- Adaptive introgression reveals the genetic basis of a sexually selected syndrome in wall lizards.Science advances · 2024Article
- A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35.The Journal of biological chemistry · 2024Article
- Macrocephaly and developmental delay caused by missense variants in RAB5C.Human molecular genetics · 2023Article
- First Clinical Report of TwoJournal of pediatric genetics · 2023Review
- The Warburg micro syndrome protein RAB3GAP1 modulates neuronal morphogenesis and interacts with axon elongation end ER-Golgi trafficking factors.Neurobiology of disease · 2023Article
- RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.The Journal of clinical investigation · 2023Article
- Optic cup morphogenesis across species and related inborn human eye defects.Development (Cambridge, England) · 2023Review
- Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome.Genes · 2022Article
33 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedBond, Frances F [corrected to Bond, Frances C]
Authors and funding
28 authors at 9 institutions in 3 countries.
Funding
Abstract
Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine abnormalities. Previously, identification of mutations in RAB3GAP1 and RAB3GAP2 in both these syndromes implicated dysregulation of the RAB3 cycle (which controls calcium-mediated exocytosis of neurotransmitters and hormones) in disease pathogenesis. RAB3GAP1 and RAB3GAP2 encode the catalytic and noncatalytic subunits of the hetrodimeric enzyme RAB3GAP (RAB3GTPase-activating protein), a key regulator of the RAB3 cycle. We performed autozygosity mapping in five consanguineous families without RAB3GAP1/2 mutations and identified loss-of-function mutations in RAB18. A c.71T > A (p.Leu24Gln) founder mutation was identified in four Pakistani families, and a homozygous exon 2 deletion (predicted to result in a frameshift) was found in the fifth family. A single family whose members were compound heterozygotes for an anti-termination mutation of the stop codon c.619T > C (p.X207QextX20) and an inframe arginine deletion c.277_279 del (p.Arg93 del) were identified after direct gene sequencing and multiplex ligation-dependent probe amplification (MLPA) of a further 58 families. Nucleotide binding assays for RAB18(Leu24Gln) and RAB18(Arg93del) showed that these mutant proteins were functionally null in that they were unable to bind guanine. The clinical features of Warburg Micro syndrome patients with RAB3GAP1 or RAB3GAP2 mutations and RAB18 mutations are indistinguishable, although the role of RAB18 in trafficking is still emerging, and it has not been linked previously to the RAB3 pathway. Knockdown of rab18 in zebrafish suggests that it might have a conserved developmental role. Our findings imply that RAB18 has a critical role in human brain and eye development and neurodegeneration.
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